Natele needs genetic analysis to clarify the diagnosis and select treatment

Pomogi.Org

Foundation • Moscow

Natela has Ehlers-Danlos syndrome, a rare genetic disorder of connective tissue. It causes ligaments and joints to become excessively flexible and fragile, leading to dislocations, strains, spinal deformities, and other serious health problems. The first symptoms appeared in childhood. Over time, her condition worsened: regular jaw dislocations, severe scoliosis, chronic fatigue, and limited mobility. Despite her illness, Natela began studying to become a special education teacher and dreams of helping children. However, due to her deteriorating health, she has now had to take an academic leave. Natela requires complex jaw surgery, but before it can be performed, doctors must accurately determine the type of disease and the associated risks. Whole-genome sequencing—a genetic analysis that will help confirm the diagnosis—has been prescribed. The results of the study will allow doctors to assess the safety of the upcoming surgical treatment and select a more precise and targeted therapy tailored to Natela's unique needs. The cost of the test is high, and she can't afford it herself. Please help Natela undergo this important examination.